Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9448
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Mitogen-activated protein kinase kinase kinase kinase 4 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
MAP4K4 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
FLH21957, HEL-S-31, HGK, MEKKK4, NIK |
Chromosome
Chromosome number
|
2 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2q11.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of |
UniProt ID |
O95819
|
Protein name |
Mitogen-activated protein kinase kinase kinase kinase 4 (EC 2.7.11.1) (HPK/GCK-like kinase HGK) (MAPK/ERK kinase kinase kinase 4) (MEK kinase kinase 4) (MEKKK 4) (Nck-interacting kinase) |
Protein function |
Serine/threonine kinase that plays a role in the response to environmental stress and cytokines such as TNF-alpha. Appears to act upstream of the JUN N-terminal pathway (PubMed:9890973). Activator of the Hippo signaling pathway which plays a piv |
PDB |
4OBO
,
4OBP
,
4OBQ
,
4RVT
,
4U3Y
,
4U3Z
,
4U40
,
4U41
,
4U42
,
4U43
,
4U44
,
4U45
,
4ZK5
,
4ZP5
,
5DI1
,
5J95
,
5W5Q
,
8V5I
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00069
|
Pkinase |
25 → 289 |
Protein kinase domain |
Domain |
PF00780
|
CNH |
930 → 1210 |
CNH domain |
Family |
|
Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. Isoform 5 is abundant in the brain. Isoform 4 is predominant in the liver, skeletal muscle and placenta. {ECO:0000269|PubMed:9890973}. |
Sequence |
|
Sequence length |
1239 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Lung cancer |
Malignant neoplasm of lung |
rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 |
27935865 |
Parkinson disease |
Parkinson Disease |
rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 View all (84 more) |
28892059 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Asthma |
Asthma |
|
27130862 |
ClinVar, GWAS |
Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
|
|
GenCC |
Parkinson Disease |
Parkinson Disease |
|
|
GWAS |
Inflammatory Bowel Disease |
Inflammatory Bowel Disease |
|
|
GWAS |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Autism Spectrum Disorder |
Associate
|
36469137 |
Azoospermia |
Inhibit
|
36497065 |
Bantu siderosis |
Associate
|
18840782 |
Breast Neoplasms |
Associate
|
25148458, 37312710 |
Carcinogenesis |
Associate
|
26269113 |
Carcinoma Hepatocellular |
Associate
|
20857524 |
Cardiomyopathies |
Associate
|
32694738 |
Cardiotoxicity |
Associate
|
32694738 |
Colorectal Neoplasms |
Associate
|
26499327, 29138007, 30361904 |
Developmental Disabilities |
Associate
|
36469137 |
Diabetes Mellitus |
Associate
|
23094072, 27174326 |
Diabetes Mellitus Type 2 |
Associate
|
23094072, 26918832, 27174326, 32993798 |
Fatty Liver |
Associate
|
35679904 |
Fatty Liver Alcoholic |
Associate
|
35679904 |
Fibrosis |
Associate
|
35679904 |
Focal Cortical Dysplasia |
Associate
|
34301297 |
Focal cortical dysplasia of Taylor |
Associate
|
34301297 |
Fractures Bone |
Associate
|
25148458 |
Glioblastoma |
Associate
|
31570734 |
Glioma |
Associate
|
31570734 |
Glucose Intolerance |
Associate
|
23094072 |
Heart Diseases |
Associate
|
32694738 |
Infertility Male |
Inhibit
|
36497065 |
Inflammation |
Associate
|
23094072, 24244164 |
Insulin Resistance |
Associate
|
17227768, 23094072, 27174326 |
Insulinoma |
Associate
|
23094072 |
Lead Poisoning Nervous System |
Associate
|
35679904 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
18945750 |
Leukemia Myeloid Acute |
Associate
|
31522654 |
Muscle Neoplasms |
Associate
|
32694738 |
Neoplasm Metastasis |
Associate
|
28591712, 29138007, 29461619, 34112843 |
Neoplasms |
Associate
|
16537454, 25337707, 32694738, 32810161, 34112843, 35296518, 36292671, 37312710 |
Non alcoholic Fatty Liver Disease |
Associate
|
35679904 |
Nonsyndromic Holoprosencephaly |
Associate
|
36469137 |
Obesity |
Stimulate
|
19351711 |
Obesity |
Associate
|
26918832 |
Osteoporosis |
Associate
|
25148458 |
Ovarian Neoplasms |
Associate
|
36922678 |
Pancreatic Neoplasms |
Associate
|
26269113, 30710069 |
Peritonitis |
Associate
|
36922678 |
Prediabetic State |
Associate
|
23094072 |
Prostate Cancer Hereditary 7 |
Associate
|
24708576 |
Prostatic Hyperplasia |
Associate
|
24474452 |
Prostatic Neoplasms |
Associate
|
31241916, 34112843, 34475205 |
Sarcoma Kaposi |
Associate
|
24244164 |
Sick Sinus Syndrome |
Associate
|
36171622 |
Stomach Neoplasms |
Stimulate
|
26549737 |
Stomach Neoplasms |
Associate
|
36171622, 36292671 |
Thyroid Cancer Papillary |
Associate
|
28855631 |
Thyroid Neoplasms |
Stimulate
|
28855631 |
Uterine Cervical Neoplasms |
Associate
|
29461619 |
Wilms Tumor |
Associate
|
32214060 |
|